ClinVar Miner

Submissions for variant NM_001010898.4(SLC6A17):c.2036A>G (p.Lys679Arg)

gnomAD frequency: 0.00603  dbSNP: rs41313405
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000430967 SCV000510782 likely benign not provided 2016-11-07 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Invitae RCV000430967 SCV001100675 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000430967 SCV003916481 likely benign not provided 2024-02-01 criteria provided, single submitter clinical testing SLC6A17: BS2
Genome-Nilou Lab RCV003343808 SCV004050629 benign Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome 2023-04-11 criteria provided, single submitter clinical testing

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